Cardiofaciocutaneous syndrome explained

Cardiofaciocutaneous syndrome

Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986.[1] [2] [3]

It is characterized by the following:

Presentation

Head

Individuals with the disorder usually have distinctive malformations of the craniofacial area including an unusually large head (macrocephaly), prominent forehead, and abnormal narrowing of both sides of the forehead (bitemporal constriction); The nose can be upturned and short with a low nasal bridge; and large ears that are abnormally rotated toward the back of the head. In many cases, affected individuals also have downward slanting eyelid folds, widely spaced eyes, drooping of the upper eyelids, inward deviation of the eyes, and other eye abnormalities including absent eyebrows and eyelashes.

Gastrointestinal system

Genetic

Costello and Noonan syndrome are similar to CFC and their phenotypic overlap may be due to the biochemical relationship of the genes mutated in each syndrome. Genes that are mutated in all three of these syndromes encode proteins that function in the MAP kinase pathway.

The relative severity of CFC when compared to Noonan syndrome may reflect the position in the biochemical pathway occupied by the affected genes.

Thus, any activating mutation downstream of SOS1 may be subject to less regulation that might mitigate the consequence of such mutations, giving rise to the phenotypic differences seen between these syndromes.[4]

External links

Notes and References

  1. Book: James, William . Berger, Timothy . Elston, Dirk . Andrews' Diseases of the Skin: Clinical Dermatology . Saunders . 2005 . 978-0-7216-2921-6 . 550 . 10th.
  2. Book: Freedberg . Fitzpatrick's Dermatology in General Medicine . McGraw-Hill . 2003 . 978-0-07-138076-8 . 513 . 6th. etal.
  3. Web site: Magoulas . Pilar L. . Fagan . Sarah . Rauen . Katherine A . Rare Disease Database: Cardiofaciocutaneous Syndrome . National Organization for Rare Disorders . 27 July 2021.
  4. Bentires-Alj M, Kontaridis MI, Neel BG . Stops along the RAS pathway in human genetic disease . Nat. Med. . 12 . 3 . 283–5 . March 2006 . 16520774 . 10.1038/nm0306-283 . 6989331 .